MCID: TRC034
MIFTS: 20

Torch Syndrome malady

Rare diseases category

Aliases & Classifications for Torch Syndrome

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Torch Syndrome, Aliases & Descriptions:

Name: Torch Syndrome 41 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


Summaries for Torch Syndrome

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MalaCards based summary: Torch Syndrome is related to band-like calcification with simplified gyration and polymicrogyria and aicardi-goutieres syndrome. An important gene associated with Torch Syndrome is OCLN (occludin), and among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Cell adhesion molecules (CAMs). The compounds uridine and pseudouridine have been mentioned in the context of this disorder. Related mouse phenotypes are muscle and digestive/alimentary.

Related Diseases for Torch Syndrome

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Graphical network of diseases related to Torch Syndrome:



Diseases related to torch syndrome

Symptoms for Torch Syndrome

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Drugs & Therapeutics for Torch Syndrome

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Drug clinical trials:

Search ClinicalTrials for Torch Syndrome

Search NIH Clinical Center for Torch Syndrome

Genetic Tests for Torch Syndrome

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Anatomical Context for Torch Syndrome

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Animal Models for Torch Syndrome or affiliated genes

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Publications for Torch Syndrome

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Articles related to Torch Syndrome:

idTitleAuthorsYear
1
Anaesthetic Management of a Patient with Pseudo-TORCH Syndrome. (25207129)
2013
2
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). (12833411)
2003
3
Pseudo-TORCH syndrome or Baraitser-Reardon syndrome: diagnostic criteria. (11226724)
2001
4
TORCH syndrome. (7640200)
1995
5
TORCH syndrome and TORCH screening. (1972489)
1990
6
Charts: the TORCH syndrome revisited. (2922243)
1989
7
The TORCH syndrome: a clinical review. (2985660)
1985
8
The "torch syndrome. (177938)
1976

Variations for Torch Syndrome

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Expression for genes affiliated with Torch Syndrome

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Search GEO for disease gene expression data for Torch Syndrome.

Pathways for genes affiliated with Torch Syndrome

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Pathways related to Torch Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.2JAM3, OCLN
29.2JAM3, OCLN
39.2OCLN, JAM3
49.2JAM3, OCLN
59.1COL4A1, JAM3
6
Show member pathways
9.1COL4A1, JAM3
7
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
9.1COL4A1, JAM3
8
Show member pathways
8.7COL4A1, JAM3, OCLN

Compounds for genes affiliated with Torch Syndrome

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Sources:
43Novoseek, 24HMDB, 12DrugBank
See all sources

Compounds related to Torch Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1uridine43 24 1211.3DKC1, TERC
2pseudouridine43 2410.2DKC1, TERC
3rrna439.0DKC1, TERC

GO Terms for genes affiliated with Torch Syndrome

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Cellular components related to Torch Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1tight junctionGO:00059239.2JAM3, OCLN

Biological processes related to Torch Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix organizationGO:00301989.1COL4A1, JAM3

Products for genes affiliated with Torch Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Torch Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet